A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737041



Internal ID10320677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:58162633..58163671hg38UCSC Ensembl
Outerchr8:59075192..59076230hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381039
hg191039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6737441, essv6757839, essv6707543, essv6818951, essv6684154, essv6775154, essv6766465, essv6752105, essv6933952, essv6800910, essv6952587, essv6755052, essv6716171, essv6881887, essv6746384, essv6749227, essv6733710, essv6681015, essv6845473, essv6919532, essv6911976, essv6939689, essv6893610, essv6684553, essv6935416, essv6970097, essv6667909, essv6856212, essv6760530, essv6866357, essv6904339, essv6734794, essv6765416, essv6904708
SamplesSSM059, SSM008, SSM087, SSM013, SSM009, SSM050, SSM002, SSM057, SSM058, SSM028, SSM021, SSM061, SSM089, SSM017, SSM094, SSM003, SSM001, SSM033, SSM066, SSM006, SSM085, SSM007, SSM015, SSM078, SSM022, SSM055, SSM025, SSM034, SSM043, SSM049, SSM056, SSM030, SSM063, SSM012
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2737041
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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